KwameAnyane-YeboaMD(He/Him)

PubMed

• 14 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark
  American Journal of Medical Genetics. Part A. 2023-08-01
• 164 citations
  the usefulness of whole-exome sequencing in routine clinical practice
  Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan T. Cho
  Genetics in Medicine. 2014-06-05
• 6 citations
  Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease
  Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer A. Sullivan, Vandana Shashi
  Human Mutation. 2021-05-11

Journal Articles

• New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia  
  Roohi, Jasmin; Crowe, Jennifer; Loredan, Denis; Anyane-Yeboa, Kwame; Mansukhani, Mahesh; Omesi, Lenore; Levine, Jennifer; Politi, Anya; Zha, Shan, Journal of Human Genetics, 1/26/2017
• Diagnostic exome sequencing in children: A survey of parental experience and psychological impact  
  Wynn J, Ottman R, Duong J, Wilson AL, Ahimaz P, Martinez J, Rabin R, Rosen E, Webster R, Au C, Cho MT, Egan C, Guzman E, Primiano M, Shaw JE, Sisson R, Klitzman RL, Ap..., Clin Genet, 1/20/2017
• Loss of function variants in NFIA GENE provide support that NFIA is the critical gene in 1p32-p31 deletion syndrome: A four patient series  
  Revah-Politi A, Ganapathi M, Bier L, Cho MT, Goldstein D, Hemati P, Iglesias A, Juusola J, Pappas J, Petrovski S, Wilson A, Aggarwal V, Anyane-Yeboa K, Am J Med Genet A, 1/1/2017
• Phenotypic heterogeneity of neutropenia and gastrointestinal illness associated with G6PC3 founder mutation  
  Glasser CL, Picoraro J, Jain P, Kinberg S, Rustia E, Gross Margolis K, Anyane-Yeboa K, Iglesias A. and Green N, Journal of Pediatric Hematology/Oncology J Pediatr Hematol Oncol, 1/26/2016
• Congenital hypothyroidism and thyroid dyshormonogenesis: A case report of siblings with a newly identified mutation in thyroperoxidase  
  Sparling DP, Fabian K, Lara Harik, Jobanputra J, Anyane-Yeboa K, Oberfield SE, and Fennoy Il, J Pediatr Endocrinology Metab, 1/19/2016
• De novo mutations in PURA are associated with hypotonia and neurodevelopmental delay  
  Tanaka AJ, Bai R, Megan MT, Anyane-Yeboa K, Ahimaz P, Wilson AL, Kendall F, Hay B, Moss T, Nardini M, Retterer K, Juusola J, Chung WK, Cold Spring Harb Mol Case Stud 1, 1/1/2015
• Clinical Spectrum of CM-AVM Presenting to a Pediatric Dermatology Practice: A Retrospective Study  
  Weitz N A, Lauren CT, Behr G, Wu JK, Kandel J, Meyers PM, Sultan S, Anyane-Yeboa K, Morel KD, and Gazon MC, Pediatr Dermatol, 1/21/2014
• Megacystis microcolon intestinal hypoperistalsis syndrome: systematic review of the prenatal ultrasonographic findings  
  Tuzovic L, Anyane-Yeboa K, Mills A, Glassberg K, and Miller R, Fetal Diagn Ther, 1/21/2014
• Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth  
  DeStefano, GM Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Luis Rohena L, Lopez-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-S..., PLoS Genet, 1/15/2014
• The Utility of Whole Exome Sequencing (WES) in Routine Clinical Practice  
  Alejandro Iglesias A, Anyane-Yeboa K, Wynn S, Wilson A, Megan T, Guzman T, Sisson T, Egan E, and Chung W K, Genet Med, 1/5/2014
• The usefulness of whole-exome sequencing in routine clinical practice  
  Iglesias A, Anyane-Yeboa K, Wynn J, Wilson A, Truitt Cho M, Guzman E, Sisson R, Egan C, Chung WK, Genet Med, 1/1/2014
• Uniparental disomy with mosaic deletion 13q in an infant with multiple congenital anomalies  
  Jobanputra V, Wilson A, Shirazi M, Burke AT, Feenstra H, Levy B, K. Yeboa K.A, Warburton D, Am J Med Genet A, 1/29/2013
• Rare inheritance of Leri-Weill syndrome secondary to cross over of the SHOX gene region between X and Y chromosomes  
  Censani M, Anyane-Yeboa K, Wapner R, Spiegel E, Guzman E, Oberfield S, Int J of Pediatr Endocrinology, 1/28/2013
• The contribution of rare copy number variants to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease  
  Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Wong N, Awad D, Yu C, Leotta A, Kendall J, Yamrom B, Yoon-ha Lee Y, Wigler M, and L..., Hum Genet, 1/25/2013
• Mutations in GMPPA cause a novel glycosylation disorder characterized by intellectual disability and autonomic dysfunction  
  Koehler K, Malik G, Mahmood' S, GieBelmann S, Beetz C, Hennings JC, Grahn A, Nurnberg P, Nurnberg G, Thiele H, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Bramsw..., Am J Hum Genet, 1/10/2013
• Duplication of the ZIC2 gene is not associated with holoprosencephaly  
  V. Jobanputra, A. Burke, A. Yeboa, A. Shanmugham, A. Muhlhauser, M. Shirazi, S. Brown, P. Warburton, B. Levy, D. Warburton, Am J Med Genet Part A, 1/21/2011
• "The Proximal Chromosomal 14q Microdeletion Syndrome: Delineation of the Phenotype Using High Resolution SNP Oligonucleotide Microarray Analysis (SOMA) and Review of t...  
  Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Jobanputra V, Warburton D, Levy B, Am J Med Genet A, 1/1/2011
• Characterization of the Chromosome 1q41q4212 region, and the Candidate Genes DISP1 and HLX, in Patients with CDH  
  Kantarci S, Ackerman KG, Russell MN, Longoni M, Sougnez C, Noonan KM, Hatchwell E, Zhang X, Pieretti R Vanmarcke, Anyane-Yeboa K, Dickman P, Wilson J, Donahoe PK, Pobe BR, Am J Med Genet A, 1/1/2010
• A novel mutation causing pseudohypoparathyroidism A with congenital hypothyroidism and osteoma cutis  
  Lubell T, Garzon M, Anyane-Yeboa, K, and Shah B, J. Clincal Res Pedatr. Endocrinology, 1/1/2009
• Changes in a ring(22) due to a meiotic recombination? Implications for genetic counseling  
  Jobanputra V, Ash E, Anyane-Yeboa K, Warburton D, and Levy B, Am J. Med. Genet., 1/1/2009
• Application of ROMA (Representational Oligonucleotide Microarray Analysis) to patients with known rearrangements  
  Jobanputra V, Sebat J, Chung W, Anyane-Yeboa K, Wigler M, and Warburton D, Genetics in Medicine, 1/1/2005
• Cutis verticis gyrata in a patient with Noonan syndrome A case report and review of the literataure  
  Fox LP, Geyer AS, Anyane-Yeboa K, Garzon MC, Pediatr Derm, 1/1/2005
• Network of attention in children with the 22q11deletion syndrome  
  Sobin C, Kiley-Brabeck K, Daniels S, Blundell M, Anyane-Yeboa K, Karayiorgou M, Dev Neuropsychology, 1/1/2004
• Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly and deafness A new genetic syndrome  
  Levy J, Chung W, Garzon M, Gallager MP, Oberfield SE, Lieber E, and Anyane-Yeboa K, Am J Med Genet, 1/1/2003
• Newborn screening for inherited metabolic disorders at the Korlebu Teaching Hospital  
  Anyane-Yeboa K, Asante-Poku S, Johnson TK, Pass KA, Ghana Med J, 1/1/2002
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Books/Book Chapters

• Pediatric Secrets 
  Chapter: Genetics 
  Anyane-Yeboa KEditors: Polin RA, Ditmar MF.Hanley and Belfus, Philadelphia2015
• Hemodynamics and Cardiology: Neonatology Questions and Controversies (A Volume in the Neonatology Questions and Controversies) 
  Chapter: Genetics of Congenital Heart Disease 
  Kwame Anyane-Yeboa and Punita GuptaEditors: Charles Kleinman, MD and Istvan Seri, MD.Edition 2nd,2012
• Congenital Heart Disease in the Adult 
  Chapter: Genetics of Congenital Heart Disease 
  Page 281 - 294Kwame Anyane-YeboaEditors: Gersony WM and Rosenbaum MS.McGraw-Hill2002
• 3rd Bishop Bekker Workshop on Genetics of Mental Retardation 
  Chapter: Screening for Hemoglobinopathies in New York City. 
  Warburton D, Anyane-Yeboa K, Malin J, and Pallai MEditors: S. M. Niermijer and E.K. Hicks.
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Abstracts/Posters

• Expanding genotype and phenotype of MEIS2-related neurocristopathy.
  Gabriel Kupchik, Anya Revah-Politi, Nicholas Stong, Kwame Anyane-Yeboa, and David Goldstein, European Society of Human Genetics Meeting, Copenhagen, 1/27/2017
• New Genes and Molecular Pathways Associated with Early Embryonic Brain Development Revealed by Next Generation Sequencing of Holoprosencephaly Cohort.
  S. Berger, K. Weiss, A. Martinez, B. Stokes, K. Anyane-Yeboa, R. Louie, J. Jones, A. Lichty, E. Prijoles, L. Walsh, J. Hogue, M. Stephan, H. Kayserili, N. Clegg, M. De..., American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Phoenix, AZ, 1/22/2017
• A Case of Severe Intrauterine Growth Restriction, Multiple Congenital Anomalies and Dysmorphic Features with Homozygous Mutation in the LIG4 Gene.
  Karen Wou, K. Anyane-Yeboa, V. Aggarwal, Y. Demirdag; N. Stong, P. Hemati, D. Goldstein, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Phoenix, AZ, 1/22/2017
• Diagnostic Exome Sequencing in a Cohort of Adult and Pediatric Epilepsy Patients
  Natalie Lippa, E. Heinzen Cox, L. Bier, M. Mullhern, A. Revah-Politi, P. Hemati, M. Ernst, X. Zhu, S. Petrovski, K. Anyane-Yeboa, C. Bazil, J. Riviello, D. Goldstein, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Phoenix, AZ, 1/22/2017
• Research Whole Exome Sequencing in a Cohort of Pediatric and Adult Patients with Undiagnosed Disease.
  Anya Revah-Politi, Parisa Hemati, Louise Bier, Nick Stong, Vimla Aggarwal, Kwame Anyane-Yeboa, David Goldstein, American College of Medical Genetics and Genomics (ACMG) Conference, Charlotte, NC, 1/10/2017
• Characterization of SCN2A: A Case Series
  David Goldstein, Erin Heinzen, Ron Wapner, Kwame Anyane-Yeboa, Vimla Aggarwal, Nick Stong, Louise Bier, Natalie Lippa, Anya Revah-Politi, Michelle Ernst, Maureen Mulhe..., American College of Medical Genetics and Genomics (ACMG) Conference, Charlotte, NC, 1/10/2017
• De novo Mutations in HK1 Causing Neurodevelopmental Abnormalities and Visual Impairment, Expanding the Phenotypic Spectrum.
  Volkan Okur, Megan T. Cho, Richard van Wijk, Jonathan Picker, Stephanie Coury, Dorothy Grange, Linda Manwaring, Ian Krantz, Colleen Clark Muraresku, Peter J. Hulick, H..., American College of Medical Genetics and Genomics (ACMG) Conference, Charlotte, NC, 1/10/2017
• A Severe Case of X-Linked Osteopathia Striata with Cranial Sclerosis in an Infant Female with a De Novo AMER1 variant.
  Amanda Thomas PhD, Christine Umandap MD, Meredith Ross MS, Mahesh Mansukhani MD, Kwame Anyane-Yeboa, MD, American College of Medical Genetics and Genomics (ACMG) Conference, Charlotte, NC, 1/10/2017
• A new mutation in CEP57 leading to Mosaic Variegated Aneuploidy.
  Bilancia CG, Wilson AL, Clarke L, Levy B, and Anyane-Yeboa K, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Tampa, FL, 1/8/2016
• Molecular cytogenetic investigation of a phenotypically normal woman with partial trisomy 18q following a positive non-invasive prenatal screening for trisomy 18.
  Ganapathi M, Bilancia CG, Hoffman N, Li S, Wilson SL, Anyane-Yeboa K, Levy B, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Tampa, FL, 1/8/2016
• First Case of Shimke Immuno-Osseous dysplasia caused by segmental Uniparental disomy 2 with a novel SMARCAL1 mutation and atypical skeletal findings.
  Ahimaz P and Anyane-Yeboa, K, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Salt Lake City, UT, 1/24/2015
• Novel FTO Mutation Responsible for Malformation Syndrome in Two Siblings.
  Rohena L, Lawson M, Guzman E, Haverfield E, Anyane-Yeboa K, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Salt Lake City, UT, 1/24/2015
• Clinical diagnostic exome sequencing identified a novel mutation in ACTG2, possibly due to germline mosaicism, in two affected children with megacystis and echogenic b...
  Tang S, Tuzovic T, Shahmirzadi L, Gonzalez K, Li X, Miller R, Wei JJ, Anyane-Yeboa K, Zeng W, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Meeting, Phoenix, AZ, 1/19/2013
• 17q2.31 microdeletion syndrome associated with mental retardation, ASD, hyperactivity and friendly behavior.
  Tuzovic L, Guzman E, Anyane-Yeboa K, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, Charlotte, NC, 1/27/2012
• Anal Atresia and sacral agenesis in DiGeorge syndrome.
  Gupta P, Anyane-Yeboa K, 62nd Meeting of American Society of Human Genetics (ASHG), San Francisco, CA, 1/6/2012
• CNVs contributing to the cause of congenital heart defects may include not only those containing candidate genes but vregions more commonly associated with autism and ...
  Warburton D, Ronemus M, Kline J, Wigler V, Jobanputra V, Levy B, Anyane-Yeboa K, Chung W, Awad D, 62nd Meeting of American Society of Human Genetics (ASHG), San Francisco, CA, 1/6/2012
• SNP arrays provide incremental, clinically significant information for patients undergoing chromosome microarray testing.
  Aggarwal V, Nahum O, Marmol B, Anyane-Yeboa K, Levy B, 62nd Meeting of American Society of Human Genetics (ASHG), San Francisco, CA, 1/6/2012
• Maternally inherited Xq26.2 duplication in a male offspring with severe prenatal and postnatal growth deficiency, dysmorphic facial features, hydrocephalus and develop...
  Tuzovic L, wynn J, Rohena L, Anyane-Yeboa K, Iglesias A, 62nd Meeting of American Society of Human Genetics (ASHG), San Francisco, CA, 1/6/2012
• Germline Mosaicism in Kniest Dysplasia: A Case Report.
  Feenstra H, Oundjian N, Rohena L, Anyane-Yeboa K, Annual Meeting of NSGC, San Diego, CA, 1/27/2011
• Molecular diagnostic dilemmas in Rett syndrome.
  Zvereff VV, Carpenter L, Patton D, Wilson A, Rita D, Anyane-Yeboa K, and Friedman KJ, Annual Meeting of American College of Medical Genetics and Genomics (ACMG), Vancouver, Canada, 1/16/2011
• Pulmonary cystic bullous disease in a patient with a clinical diagnosis of Bannayan-Riley-revalcaba syndrome.
  Gupta P, Shanmugham A, Lamm C, Burke AT, and Anyane-Yeboa K, Annual Meeting of American College of Medical Genetics and Genomics (ACMG), Vancouver, Canada, 1/16/2011
• Uniparental disomy with mosaic deletion13q in an infant with multiple congenital anomalies.
  Burke AT, Shirazi M, Wilson A, Feenstra H, Gupta P, Anyane-Yeboa K, Levy B, Warburton D, and Jobanputra V, Annual Meeting of American College of Medical Genetics and Genomics (ACMG), Vancouver, Canada, 1/16/2011
• A spectrum of mutations in the COL7A1 gene underlies different clinical forms of dystrophic epidermolysis bullosa.
  Shuhaiber H, Guzman E, Anyane-Yeboa K, Annual Meeting of American College of Medical Genetics and Genomics (ACMG), Albuquerque, NM, 1/23/2010
• A novel missense mutation of FOXC2 in an adolescent girl with lymphedema, bilateral sensorineural hearing loss and renal agenesis.
  Anyane-Yeboa, k, Shuhaiber H, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, Tampa, FL, 1/25/2009
• MECP2 Exon1 mutation in a male child with Rett syndrome.
  Shuhaiber h, Guzman E, Anyane-Yeboa, K, American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, Tampa, FL, 1/25/2009
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Lectures

• New Advances in Genetic Testing 
  1/29/2013
• Cytogenetics: Clinical aspects of common chromosome syndromes Part II 
  1/17/2013
• Cytogenetics: Clinical aspects of common chromosome syndromes III 
  1/17/2013
• SHOX- Clinical and Molecular Spectrum 
  1/17/2013
• Patterns of inheritance 2 
  1/11/2013
• Patterns of inheritance 1 
  1/8/2013
• Patterns of inheritance- Xlinked & complex. 
  1/7/2013
• Name That Syndrome 
  1/7/2013
• Cytogenetics: Clinical aspects of common chromosome syndromes Part I 
  1/7/2013
• Review of Common Genetic Syndromes 
  1/6/2013
• Recent advances in Genetic testing: Implications for Pediatricians. 
  1/5/2013
• Genetics for the Neonatologist I 
  1/4/2013
• Interesting case:LEOPARD syndrome. 
  1/4/2013
• Interesting Case: Peutz-Jegher Syndrome 
  1/3/2013
• Genetics of Cleft lip/Palate 
  1/3/2013
• Coffin-Lowry Syndrome-case presentation and review. 
  1/1/2013
• ATRX and Multiple Epiphyseal 
  1/1/2013
• Genetics of Autism Spectrum disorders-Overview 
  1/30/2012
• Cytogenetics: Clinical aspects of common chromosome syndromes Part II. 
  1/30/2012
• Cytogenetics: Clinical aspects of common chromosome syndromes III. 
  1/24/2012
• Current concepts in Genetics: Diagnosis, Testing & Counseling 
  1/20/2012
• Cytogenetics: Clinical aspects of common chromosome syndromes Part I. 
  1/20/2012
• Patterns of inheritance 2. 
  1/12/2012
• Dysmorphology: Genetics of Limb defects. 
  1/7/2012
• Asymmetric crying face in DiGeorge syndrome. 
  1/7/2012
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Other

• Chromosome abnormality and its impact on mental retardation, infertility and cancer. 
  Anyane-Yeboa, K, University of Ghana Press
• Who is at risk for cancer, diabetes, hypertension and other diseases? It's all in our genes. 
  Anyane-Yeboa, K, University of Ghana Press
• Thy sins shall find thee out! Use of DNA in human identification and in tracking the origins of humans. 
  Anyane-Yeboa, K, University of Ghana Press